Evidence map›Paper›PMID 32745807›Full record

ArticleNeurobiology of aging2020

An epigenome-wide association study of Alzheimer's disease blood highlights robust DNA hypermethylation in the HOXB6 gene.

Janou A Y Roubroeks, Adam R Smith, Rebecca G Smith, Ehsan Pishva, Zina Ibrahim, Martina Sattlecker, Eilis J Hannon, Iwona Kłoszewska, Patrizia Mecocci, Hilkka Soininen and 12 more

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In one paragraph

Article in Neurobiology of aging, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed, 5 pooled it
5.8field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

43 citing papers in PubMed, 5 syntheses or guidelines pooled it, 93 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Article
  7. Blood DNA Methylation Predicts Long-Term Risk of Dementia in Prospective Cohorts.medRxiv : the preprint server for health sciences · 2026
    Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Delineating blood DNA methylation biomarkers for Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  13. Article
  14. Article
  15. Article
  16. Blood DNA methylation signature for incident dementia: Evidence from longitudinal cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  17. Article
  18. A brain DNA co-methylation network analysis of psychosis in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
  19. Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors at 11 institutions in 10 countries.

Janou A Y RoubroeksCollege of Medicine and Health, University of Exeter, Exeter, UK.
Adam R SmithCollege of Medicine and Health, University of Exeter, Exeter, UK.
Rebecca G SmithCollege of Medicine and Health, University of Exeter, Exeter, UK.
Ehsan PishvaCollege of Medicine and Health, University of Exeter, Exeter, UK; School for Mental Health and Neuroscience (MHeNS), Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, the Netherlands.
Zina IbrahimDepartment of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience (IOPPN), King's College London, London, UK; Farr Institute of Health Informatics Research, University College London, London, UK.
Martina SattleckerDepartment of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience (IOPPN), King's College London, London, UK.
Eilis J HannonCollege of Medicine and Health, University of Exeter, Exeter, UK.
Iwona KłoszewskaMedical University of Lodz, Lodz, Poland.
Patrizia MecocciInstitute of Gerontology and Geriatrics, University of Perugia, Perugia, Italy.
Hilkka SoininenInstitute of Clinical Medicine, Neurology, University of Eastern Finland, Kuopio, Finland; Neurocenter, Neurology, Kuopio University Hospital, Kuopio, Finland.
Magda Tsolaki1st Department of Neurology, Memory and Dementia Unit, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Bruno VellasINSERM U 558, University of Toulouse, Toulouse, France.
Lars-Olof WahlundNVS Department, Section for Clinical Geriatrics, Karolinska Institutet, Stockholm, Sweden.
Dag AarslandKing's Health Partners Centre for Neurodegeneration Research, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; Centre for Age-Related Diseases, Stavanger University Hospital, Stavanger, Norway.
Petroula ProitsiKing's Health Partners Centre for Neurodegeneration Research, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; NIHR Biomedical Research Centre for Mental Health at South London and Maudsley NHS Foundation Trust and Institute of Psychiatry, King's College London, London, UK.
Angela HodgesKing's Health Partners Centre for Neurodegeneration Research, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Simon LovestoneDepartment of Psychiatry, Warneford Hospital, University of Oxford, Oxford, UK; Current Affiliation at Janssen-Cilag UK.
Stephen J NewhouseKing's Health Partners Centre for Neurodegeneration Research, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK; NIHR Biomedical Research Centre for Mental Health at South London and Maudsley NHS Foundation Trust and Institute of Psychiatry, King's College London, London, UK.
Richard J B DobsonDepartment of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience (IOPPN), King's College London, London, UK; Farr Institute of Health Informatics Research, University College London, London, UK.
Jonathan MillCollege of Medicine and Health, University of Exeter, Exeter, UK.
Daniël L A van den HoveSchool for Mental Health and Neuroscience (MHeNS), Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, the Netherlands; Department of Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, Würzburg, Germany.
Katie LunnonCollege of Medicine and Health, University of Exeter, Exeter, UK. Electronic address: k.lunnon@exeter.ac.uk.
King's College London · GBUniversity of Exeter · GBMaastricht University · NLAristotle University of Thessaloniki · GRInserm · FRKarolinska Institutet · SEMedical University of Lodz · PLUniversity College London · GBUniversity of Eastern Finland · FIUniversity of Oxford · GBUniversity of Perugia · IT

Funding

A multi-faceted approach to epigenomic profiling in Alzheimer's disorderR01AG036039 · NIA · KING'S COLLEGE LONDON · PI MILL, JONATHAN · 2009 to 2012
$1.7M
British Heart FoundationChief Scientist OfficeDepartment of HealthMedical Research Council MC_PC_17214Medical Research Council MR/N027973/1NIA NIH HHS R01 AG036039Wellcome Trust
6 · The paper itself

Abstract

A growing number of epigenome-wide association studies have demonstrated a role for DNA methylation in the brain in Alzheimer's disease. With the aim of exploring peripheral biomarker potential, we have examined DNA methylation patterns in whole blood collected from 284 individuals in the AddNeuroMed study, which included 89 nondemented controls, 86 patients with Alzheimer's disease, and 109 individuals with mild cognitive impairment, including 38 individuals who progressed to Alzheimer's disease within 1 year. We identified significant differentially methylated regions, including 12 adjacent hypermethylated probes in the HOXB6 gene in Alzheimer's disease, which we validated using pyrosequencing. Using weighted gene correlation network analysis, we identified comethylated modules of genes that were associated with key variables such as APOE genotype and diagnosis. In summary, this study represents the first large-scale epigenome-wide association study of Alzheimer's disease and mild cognitive impairment using blood. We highlight the differences in various loci and pathways in early disease, suggesting that these patterns relate to cognitive decline at an early stage.

Indexed as

AgedAged, 80 and overAlzheimer DiseaseApolipoproteins EBrainCognitive DysfunctionDNA MethylationFemaleGenome-Wide Association StudyGenotypeHomeodomain ProteinsHumansMaleApolipoproteins EHomeodomain ProteinsHOXB6 protein, humanAlzheimer's disease (AD)BiomarkerBloodDNA methylationHOXB6Mild cognitive impairment (MCI)

Identifiers

PMID32745807
PMCPMC7649340
OpenAlexW3039758274

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.